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Gaucher Disease (Gaucher's Disease) Summary

Description: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

Also Known As: Gaucher's Disease; Gaucher Disease, Type 1; Gaucher Disease, Type 2; Gaucher Disease, Type 3; Infantile Gaucher Disease Show All >>

Networked: 2055 relevant articles (108 outcomes, 165 trials/studies) for this Disease

Key Drugs and Agents for Gaucher Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Glucosylceramidase (Glucocerebrosidase) : 20 outcomes 52 studies in 902 results : IBA
  2. imiglucerase (Cerezyme) : 20 outcomes 11 studies in 113 results : FDA 1
  3. miglustat (Zavesca) : 7 outcomes 15 studies in 64 results : FDA 1
  4. alglucerase (Ceredase) : 7 outcomes 3 studies in 55 results : FDA 1
  5. Mannose (D-Mannose) : 6 outcomes 1 study in 25 results : IBA
  6. Biological Markers (Surrogate Marker) : 3 outcomes 2 studies in 36 results : IBA
  7. Enzymes : 3 outcomes 2 studies in 32 results : IBA
  8. ceramide glucosyltransferase : 2 outcomes 4 studies in 26 results : IBA
  9. chitotriosidase : 2 outcomes 2 studies in 64 results : IBA
  10. Imino Sugars : 2 outcomes in 2 results : IBA
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Diseases Related to Gaucher Disease

  1. Thrombocytopenia (Thrombopenia)
  2. Mucopolysaccharidoses
  3. Fabry Disease (Fabry's Disease)
  4. Globoid Cell Leukodystrophy (Krabbe Disease)
  5. Metachromatic Leukodystrophy (Sulfatide Lipidosis)
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Key Therapies for Gaucher Disease

Efficacy Chart >>
  1. Enzyme Replacement Therapy : 50 outcomes 27 studies in 385 results
  2. Enzyme Therapy : 4 outcomes 3 studies in 51 results
  3. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 4 outcomes 2 studies in 31 results
  4. Splenectomy : 3 outcomes 2 studies in 92 results
  5. Hepatectomy : 1 outcome 1 study in 1 result
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